Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55699
Gene name Gene Name - the full gene name approved by the HGNC.	Isoleucyl-tRNA synthetase 2, mitochondrial
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	IARS2
Synonyms (NCBI Gene) Gene synonyms aliases	CAGSSS, ILERS
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q41
Summary Summary of gene provided in NCBI Entrez Gene.	Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first prot

Show/Hide all(10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143722284	G>A	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs146618526	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs151241066	G>A	Pathogenic	Missense variant, coding sequence variant
rs373436822	G>A	Pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs587783070	C>T	Pathogenic	Coding sequence variant, missense variant
rs773732328	C>A,G,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained, missense variant
rs1287308680	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1571845061	T>C	Pathogenic	Coding sequence variant, missense variant
rs1571863769	A>G	Pathogenic	Coding sequence variant, missense variant
rs1571865562	C>T	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(63)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052088	hsa-let-7b-5p	CLASH	23622248
MIRT049747	hsa-miR-92a-3p	CLASH	23622248
MIRT048072	hsa-miR-197-3p	CLASH	23622248
MIRT040636	hsa-miR-92b-3p	CLASH	23622248
MIRT1058046	hsa-miR-3180-5p	CLIP-seq
MIRT1058047	hsa-miR-376a	CLIP-seq
MIRT1058048	hsa-miR-376b	CLIP-seq
MIRT1058049	hsa-miR-487a	CLIP-seq
MIRT1058050	hsa-miR-520a-5p	CLIP-seq
MIRT1058051	hsa-miR-525-5p	CLIP-seq
MIRT1058052	hsa-miR-532-5p	CLIP-seq
MIRT2013337	hsa-miR-1278	CLIP-seq
MIRT2013338	hsa-miR-3682-5p	CLIP-seq
MIRT2013339	hsa-miR-3920	CLIP-seq
MIRT2013340	hsa-miR-4427	CLIP-seq
MIRT2013341	hsa-miR-4659a-3p	CLIP-seq
MIRT2013342	hsa-miR-4659b-3p	CLIP-seq
MIRT2013343	hsa-miR-4680-3p	CLIP-seq
MIRT2013344	hsa-miR-4700-3p	CLIP-seq
MIRT2013345	hsa-miR-4712-5p	CLIP-seq
MIRT2013346	hsa-miR-4762-3p	CLIP-seq
MIRT2013347	hsa-miR-4778-3p	CLIP-seq
MIRT2013348	hsa-miR-5095	CLIP-seq
MIRT2013349	hsa-miR-770-5p	CLIP-seq
MIRT2013337	hsa-miR-1278	CLIP-seq
MIRT2245559	hsa-miR-2053	CLIP-seq
MIRT2245560	hsa-miR-3160-3p	CLIP-seq
MIRT2013339	hsa-miR-3920	CLIP-seq
MIRT2245561	hsa-miR-4433	CLIP-seq
MIRT2245562	hsa-miR-4459	CLIP-seq
MIRT2245563	hsa-miR-4476	CLIP-seq
MIRT2245564	hsa-miR-4487	CLIP-seq
MIRT2245565	hsa-miR-4676-5p	CLIP-seq
MIRT2245566	hsa-miR-4691-5p	CLIP-seq
MIRT2013344	hsa-miR-4700-3p	CLIP-seq
MIRT2013345	hsa-miR-4712-5p	CLIP-seq
MIRT2013346	hsa-miR-4762-3p	CLIP-seq
MIRT2245567	hsa-miR-4768-3p	CLIP-seq
MIRT2245568	hsa-miR-4779	CLIP-seq
MIRT2013348	hsa-miR-5095	CLIP-seq
MIRT2245569	hsa-miR-558	CLIP-seq
MIRT2245570	hsa-miR-569	CLIP-seq
MIRT2245571	hsa-miR-575	CLIP-seq
MIRT2013349	hsa-miR-770-5p	CLIP-seq
MIRT2548817	hsa-miR-3119	CLIP-seq
MIRT2548818	hsa-miR-3124-3p	CLIP-seq
MIRT2548819	hsa-miR-3160-5p	CLIP-seq
MIRT2548820	hsa-miR-3163	CLIP-seq
MIRT2548821	hsa-miR-337-3p	CLIP-seq
MIRT2548822	hsa-miR-340	CLIP-seq
MIRT2548823	hsa-miR-3685	CLIP-seq
MIRT2548824	hsa-miR-384	CLIP-seq
MIRT2245566	hsa-miR-4691-5p	CLIP-seq
MIRT2548825	hsa-miR-4699-3p	CLIP-seq
MIRT2548826	hsa-miR-4797-5p	CLIP-seq
MIRT2548817	hsa-miR-3119	CLIP-seq
MIRT2548818	hsa-miR-3124-3p	CLIP-seq
MIRT2548819	hsa-miR-3160-5p	CLIP-seq
MIRT2548821	hsa-miR-337-3p	CLIP-seq
MIRT2548823	hsa-miR-3685	CLIP-seq
MIRT2548824	hsa-miR-384	CLIP-seq
MIRT2245566	hsa-miR-4691-5p	CLIP-seq
MIRT2548825	hsa-miR-4699-3p	CLIP-seq

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0002161	Function	Aminoacyl-tRNA deacylase activity	IEA
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004822	Function	Isoleucine-tRNA ligase activity	IBA
GO:0004822	Function	Isoleucine-tRNA ligase activity	IEA
GO:0004822	Function	Isoleucine-tRNA ligase activity	TAS
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006412	Process	Translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006428	Process	Isoleucyl-tRNA aminoacylation	IBA
GO:0006428	Process	Isoleucyl-tRNA aminoacylation	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0032543	Process	Mitochondrial translation	IBA
GO:0106074	Process	Aminoacyl-tRNA metabolism involved in translational fidelity	IEA

MIM	HGNC	e!Ensembl
612801	29685	ENSG00000067704

Protein

UniProt ID

Q9NSE4

Protein name

Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5) (Isoleucyl-tRNA synthetase) (IleRS)

Protein function

Aminoacyl-tRNA synthetase that catalyzes the specific attachment of isoleucine to its cognate tRNA (tRNA(Ile)).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00133	tRNA-synt_1	87 → 712	tRNA synthetases class I (I, L, M and V)	Family
PF08264	Anticodon_1	756 → 921	Anticodon-binding domain of tRNA ligase	Domain
PF06827	zf-FPG_IleRS	984 → 1008	Zinc finger found in FPG and IleRS	Domain

Sequence

MRWGLRPRGPGAAALATARSLWGTPRLPCSPGWQGATKRLLVRSVSGASNHQPNSNSGRY
RDTVLLPQTSFPMKLLGRQQPDTELEIQQKCGFSELYSWQRERKVKTEFCLHDGPPYANG
DPHVGHALNKILKDIANRFHMMNGSKIHFVPGWDCHGLPIEIKVLSELGREAQNLSAMEI
RKKARSFAKAAIEKQKSAFIRWGIMADWNNCYYTFDGKYEAKQLRTFYQMYDKGLVYRSY
KPVFWSPSSRTALAEAELEYNPEHVSRSIYVKFPLLKPSPKLASLIDGSSPVSILVWTTQ
PWTIPANEAVCYMPESKYAVVKCSKSGDLYVLAADKVASVASTLETTFETISTLSGVDLE
NGTCSHPLIPDKASPLLPANHVTMAKGTGLVHTAPAHGMEDYGVASQHNLPMDCLVDEDG
VFTDVAGPELQNKAVLEEGTDVVIKMLQTAKNLLKEEKLVHSYPYDWRTKKPVVIRASKQ
WFINITDIKTAAKELLKKVKFIPGSALNGMVEMMDRRPYWCISRQRVWGVPIPVFHHKTK
DEYLINSQTTEHIVKLVEQHGSDIWWTLPPEQLLPKEVLSEVGGPDALEYVPGQDILDIW
FDSGTSWSYVLPGPDQRADLYLEGKDQLGGWFQSSLLTSVAARKRAPYKTVIVHGFTLGE
KGEKMSKSLGNVIHPDVVVNGGQDQSKEPPYGADVLRWWVADSNVFTEVAIGPSVLNAAR
DDISKLRNTLRFLLGNVADFNPETDSIPVNDMYVIDQYMLHLLQDLANKITELYKQYDFG
KVVRLLRTFYTRELSNFYFSIIKDRLYCEKENDPKRRSCQTALVEILDVIVRSFAPILPH
LAEEVFQHIPYIKEPKSVFRTGWISTSSIWKKPGLEEAVESACAMRDSFLGSIPGKNAAE
YKVITVIEPGLLFEIIEMLQSEETSSTSQLNELMMASESTLLAQEPREMTADVIELKGKF
LINLEGGDIREESSYKVIVMPTTKEKCPRCWKYTAESSDTLCPRCAEVVSGK

Sequence length

1012

Interactions

View interactions

	KEGG		Reactome
	Aminoacyl-tRNA biosynthesis		Mitochondrial tRNA aminoacylation

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	rs151241066, rs1571845061, rs146618526, rs1571865562, rs1571863769	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
leigh syndrome	Leigh syndrome	N/A	N/A	ClinVar
Leigh Syndrome	Leigh syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anemia Sideroblastic	Associate	33327715
Cataract	Associate	29914532, 30419932
Colorectal Neoplasms	Associate	26722399
Congenital Abnormalities	Associate	30419932
Dwarfism Pituitary	Associate	30419932
Hearing Loss Sensorineural	Associate	30419932
HEM dysplasia	Associate	30419932
Hereditary Sensory and Autonomic Neuropathies	Associate	30419932
Hirschsprung Disease	Associate	28006787
Leukemia	Associate	30832756
Leukemia Myeloid Acute	Associate	30832756
Mitochondrial Diseases	Associate	30419932
Neurologic Manifestations	Associate	30419932
Polyneuropathies	Associate	30419932
Spasms Infantile	Associate	30419932

IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial)